rhizomelic syndrome, Urbach type https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/rhizomelic_syndrome https://www.malacards.org/card/rhizomelic_syndrome_urbach_type Orphanet:3098 Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. GARD:0004705 MESH:C537611 familial rhizomelic dysplasia OMIM:268250 UMLS:C1849382 MEDGEN:376574 MONDO:0009996 skeletal dysplasia